Navigation Links
Single gene controls development of many forms of polycystic disease
Date:6/19/2011

New Haven, Conn. A single gene is central in the development of several forms of polycystic kidney and liver disease, Yale School of Medicine researchers report in the June 19 issue of Nature Genetics.

The findings suggest manipulating activity of PKD1, the gene causing the most common form of polycystic kidney disease, may prove beneficial in reducing cysts in both liver and kidney.

"We found that these conditions are not the result of an all or nothing phenomenon," said Stefan Somlo, the C.N.H. Long Professor of Medicine and Genetics and Chief, Section of Nephrology and senior author of the study. "The less PKD1 is expressed, the more cysts develop. Conversely, expressing more PKD1 can slow the process."

The most common form of this condition is called autosomal dominant polycystic kidney disease (ADPKD), a condition passed on to children from one parent affected with the disease that is found in 600,000 people in the United States alone. Two genes, PKD1 and PKD2, are responsible for the onset of this condition.

PKD patients also develop cysts of the liver and Somlo and colleagues had previously identified families with identical cysts found only in the liver. They found two different genes were responsible for this related condition.

The researchers wanted to know how liver-only polycystic disease was related to ADPKD. In a series of experiments using both genetically engineered mouse models and biochemical studies, they found that the activity of only one of the four genes, PKD1, controlled cyst formation in the other forms of the disease. Experiments in mice showed that modulating dosage of PKD1 could slow disease progression.

"The data suggest the exciting possibility that targeting the activity of PKD1 may be beneficial for treatment of isolated polycystic liver disease, childhood recessive polycystic kidney disease and even a subset of adult ADPKD," said Somlo.

Yale is a leader in the investigation of PKD. For instance basic scientific research conducted at Yale has been crucial in helping to identify cilia, the tiny thread-like structure that extends from a cell's surface, as a critical component in cyst forming pathways. Yale has been the home of one of the four NIH-funded national centers of excellence in PKD research since 1999. In addition, the laboratory of Craig Crews, Lewis B. Cullman Professor of Molecular, Cellular, and Developmental Biology and Professor of Chemistry and of Pharmacology, has identified a compound that has shown promise in reducing number of cysts in some mouse models of PKD.


'/>"/>

Contact: Bill Hathaway
william.hathaway@yale.edu
203-432-1322
Yale University
Source:Eurekalert  

Related biology news :

1. Single GFP-expressing cell is basis of living laser device
2. Improving health assessments with a single cell
3. Scientists observe single gene activity in living cells
4. Species unique to single island should not be rare there
5. 3-D tracking of single molecules inside cells
6. Type 2 diabetes linked to single gene mutation in 1 in 10 patients
7. Single-cell marine predators unique survival mechanisms revealed: UBC research
8. Research shows single-patient rooms reduce hospital infections in ICU
9. Single cell studies identify coactivator role in fat cell maturation
10. Iowa State, Ames Lab researcher develops new way to study single biological molecules
11. Single parenthood doesnt pay off for plants
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Single gene controls development of many forms of polycystic disease
(Date:4/24/2017)... April 24, 2017 Janice Kephart ... with  Identity Strategy Partners, LLP (IdSP) , today ... without President Trump,s March 6, 2017 Executive ... , refugee vetting can be instilled with greater confidence, ... now, all refugee applications are suspended by until ...
(Date:4/13/2017)... April 13, 2017 According to a new market ... Identity Analytics, Identity Administration, and Authorization), Service, Authentication Type, Deployment Mode, Vertical, ... Market is expected to grow from USD 14.30 Billion in 2017 to ... of 17.3%. ... MarketsandMarkets Logo ...
(Date:4/6/2017)... Forecasts by Product Type (EAC), ... End-Use (Transportation & Logistics, Government & Public Sector, Utilities ... Generation Facility, Nuclear Power), Industrial, Retail, Business Organisation (BFSI), ... you looking for a definitive report on the $27.9bn ... ...
Breaking Biology News(10 mins):
(Date:6/22/2017)... , ... June 22, 2017 , ... ... announced the release of Limfinity® version 6.5, a content-packed update to the Limfinity® ... to gain a larger and more diverse base of customers among labs and ...
(Date:6/20/2017)... 2017  Kibow Biotech Inc., a pioneer in developing ... of a new patent covering a unique method for ... Patent and Trademark Office on May 23 rd ... of Bio award in 2014 in San ... approaches to chronic disease. Renadyl™, the first and only ...
(Date:6/19/2017)... ... 2017 , ... EDETEK, Inc., a clinical technology company focused ... two new additions of its award-winning cloud-based platform CONFORM™: Information Hub and Clinical ... Annual Meeting in Chicago, IL, June 19-22, 2017. , “Modern clinical trials use ...
(Date:6/16/2017)... ... 16, 2017 , ... CTNext , Connecticut’s go-to resource for entrepreneurial support, ... LOFT at Chelsea Piers in Stamford. , Nine finalists, all of whom are Connecticut-based ... an opportunity to secure $10,000 awards to help support business growth. The winners included:, ...
Breaking Biology Technology: